Description:
GALACTOSIALIDOSIS; GSL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Biochemical characterization - other
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| exo-alpha-sialidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.18 |
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| Remarks |
Clinically affected; infantile onset; normal stature and intelligence; visceromegaly; dysostosis multiplex; deficient beta-galactosidase and neuraminidase activity in fibroblasts; unaffected family (family #693) also in repository.
|
| Shimmoto M, Fukuhara Y, Itoh K, Oshima A, Sakuraba H, Suzuki Y, Protective protein gene mutations in galactosialidosis. J Clin Invest91:2393-8 1993 |
| PubMed ID: 8514852 |
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| Andria, Infantile neuraminidase and B-galactosidase deficiencies (galactosialidosis) with mild clinical courses. Perspect Inher Metab Dis4:379 (1981):2393-8 1981 |
| PubMed ID: 8514852 |
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